Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia-Reference-Cited by-同舟云学术

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Co-occurrence of a novel PDGFRB variant and likely pathogenic variant in CASR in an individual with extensive intracranial calcifications and hypocalcaemia

Published:2017-11-20 Issue:1 Volume:6 Page:8-13
ISSN:2050-0904
Container-title:Clinical Case Reports
language:en
Short-container-title:Clin Case Rep

Author:

DeMeo Natasha N.¹,Burgess Jeremy D.¹,Blackburn Patrick R.²³^ORCID,Gass Jennifer M.²^ORCID,Richter John²⁴,Atwal Herjot K.⁵,van Gerpen Jay A.⁶,Atwal Paldeep S.²⁴^ORCID

Affiliation:

1. Department of Neuroscience; Mayo Clinic; Jacksonville Florida

2. Center for Individualized Medicine; Mayo Clinic; Jacksonville Florida

3. Department of Health Sciences Research; Mayo Clinic; Jacksonville Florida

4. Department of Clinical Genomics; Mayo Clinic; Jacksonville Florida

5. Department of Pharmacy; Mayo Clinic; Jacksonville Florida

6. Department of Neurology; Mayo Clinic; Jacksonville Florida

Publisher

Wiley

Subject

General Medicine

Reference30 articles.

1. Ossification des capillairies du cerveau;Delacour;Ann. Med. Psychol.,1850

2. Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation;Förstl;J. Neurol.,1992

3. What is and what is not ‘Fahr's disease’;Manyam;Parkinsonism Relat. Disord.,2005

4. Identificaiton of mineral depositions in the brain on radiological images: a systematic review;Valdés Hernández;Eur. Radiol.,2012

5. High frequency of calcification in basal ganglia on brain computed tomography images in Japanese older adults;Yamada;Geriatr. Gerontol. Int.,2013

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant;Frontiers in Neurology;2023-09-14

2. Brain Calcifications: Genetic, Molecular, and Clinical Aspects;International Journal of Molecular Sciences;2023-05-19

3. Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification;Human Molecular Genetics;2021-09-07

4. Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five‐year‐old Chinese girl;Molecular Genetics & Genomic Medicine;2021-04

5. Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients;Journal of Molecular Neuroscience;2019-11-25

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